A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5912630



Internal ID22687846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:128087847..128087960hg38UCSC Ensembl
chr9:130850126..130850239hg19UCSC Ensembl
Cytoband9q34.11
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17446250
Samples
Known GenesSLC25A25
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5912630
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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